Pulmonary dysfunction in children with Cystinosis: single center study, original article
Egyptian Pediatric Association Gazette, 2022 Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin.
Dina H. Hamed +4 more
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Cysteamine inhibits lysosomal oxidation of low density lipoprotein in human macrophages and reduces atherosclerosis in mice [PDF]
, 2019 Background and aims: We have shown previously that low density lipoprotein (LDL) aggregated by vortexing is internalised by macrophages and oxidised by iron in lysosomes to form the advanced lipid/protein oxidation product ceroid.
Ahmad +73 more
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Low density lipoprotein oxidation by ferritin at lysosomal pH [PDF]
, 2018 Oxidation of low density lipoprotein (LDL) has been proposed to be involved in the pathogenesis of atherosclerosis. We have previously shown that LDL can be oxidised by iron in lysosomes.
Leake, David S., Ojo, Oluwatosin O.
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Cystinosis and two rare mutations in CTNS gene: two case reports
Journal of Medical Case Reports, 2022 Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport.
Sepideh Gholami Yarahmadi +2 more
doaj +1 more source
Grip Strength in Adults and Children with Cystinosis
Kidney International Reports, 2021 Introduction: Chronic kidney disease (CKD) is associated with impaired muscle strength. Patients with cystinosis have an increased risk for impaired muscle strength because of early development of CKD and cystinosis-induced myopathy.
Helina Iyob-Tessema +6 more
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Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate [PDF]
, 2012 Halitosis due to dimethylsulfide (DMS) generation is a major side effect of cysteamine in the treatment of cystinosis. Recently, an enteric coated formulation of cysteamine bitartrate (RP103) administered twice daily was demonstrated to be non-inferior ...
Besouw, Martine +4 more
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Synthesis of diacylated γ-glutamyl-cysteamine prodrugs, and in vitro evaluation of their cytotoxicity and intracellular delivery of cysteamine [PDF]
, 2015 To overcome the major disadvantages of cysteamine, the only registered treatment for the rare genetic disease cystinosis, nine prodrugs of γ-glutamyl-cysteamine (4) were synthesized for evaluation.
Anderson, Rosaleen +5 more
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Prenatal diagnosis of cystinosis [PDF]
, 1975 Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 55Sl-cystine retention was measured.
Blazer, Bonnie +3 more
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Non-invasive intradermal imaging of cystine crystals in cystinosis.
PLoS ONE, 2021 ImportanceDevelopment of noninvasive methodology to reproducibly measure tissue cystine crystal load to assess disease status and guide clinical care in cystinosis, an inherited lysosomal storage disorder characterized by widespread cystine crystal ...
Marya Bengali +10 more
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Saudi Journal of Kidney Diseases and Transplantation, 2016 Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
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